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The British Journal of Psychiatry (2002) 180: 455-460
© 2002 The Royal College of Psychiatrists

Genetics, molecular biology, neuropathology and phenotype of frontal lobe dementia

A case history

SIMON LOVESTONE, MRCPsych

Section of Old Age Psychiatry, Institute of Psychiatry, London

MICHAEL PHILPOT, MRCPsych

Maudsley Hospital, London, UK

JAMES CONNELL, BSc

Department of Neuroscience, Institute of Psychiatry, London

PETER LANTOS, FRCPath

Department of Pathology, Institute of Psychiatry, London

JOHN POWELL, PhD, CARSTEN RUSS, BSc and BRIAN ANDERTON, PhD

Department of Neuroscience, Institute of Psychiatry, London, UK

Correspondence: Professor S. Lovestone, Institute of Psychiatry, De Crespigny Park, London SE5 8AF, UK

Declaration of interest This work was completed in the course of research funded by the Medical Research Council and the Wellcome Trust.

Background Mutations in tau have been found in a group of related disorders including the frontal lobe dementias.

Aims To describe the clinical features and molecular pathology changes in a single case of a patient with frontal lobe dementia.

Method A case report was compiled from neuropathological reports and genomic and gene expression analyses.

Results A case with a splice-site mutation resulting in a typical frontotemporal clinical and neuropathological phenotype was found. Gene expression analysis suggests differential expression of isoforms of tau in regions in the brain.

Conclusions Frontotemporal dementia can result from gene mutations that alter splicing and expression of tau.


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